Article
Neuroendocrine, gonadal, placental, and obstetric phenotypes in patients with IHH and mutations in the G-protein coupled receptor, GPR54.
Molecular and cellular endocrinology - 25 Jul 2006
Pallais J Carl, Bo-Abbas Yousef, Pitteloud Nelly, Crowley William F, Seminara Stephanie B
Abstract excerpt
The G protein coupled receptor, GPR54, is a key regulator of puberty and reproductive function. Despite its prismatic role, few patients with mutations in GPR54 and the phenotype of hypogonadotropic hypogonadism have been described. This report explores the neuroendocrine, gonadal, placental and obstetric phenotypes of patients with idiopathic hypogonadotropic hypogonadism (IHH) carrying missense (L148S),...
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